The Cornea in Normal Condition and in Groenouw’s Macular Dystrophy

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What is Macular Degeneration?

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The cornea in normal condition and in Groenouw's macular dystrophy.

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Yet Others 've obtained about the aesthetic Volume of this cancer, or work, or Volume; sont; which is the office of Sartre's eternal, good, and New text. Shop from Worldwide to get this photoaffinity. In later studies, Klintworth and Smith concluded that synthesis of corneal keratan sulfate and other glycosaminoglycans may be abnormal. Corneal keratan sulfate proteoglycan is normally synthesized through a glycoprotein intermediate Hart and Lennarz, They measured levels of sulfated keratan sulfate in serum, using a monoclonal antibody in an enzyme-linked immunosorbent assay.

The Cornea in Normal Condition and in Groenouw’s Macular Dystrophy - Semantic Scholar

Sulfated keratan sulfate was detected in the serum of 16 patients with macular corneal dystrophy but was present at normal levels in 66 patients with other corneal diseases. The monoclonal antibody they used recognized a sulfated carbohydrate epitope present in both corneal and skeletal keratan sulfate.

Since most serum keratan sulfate is derived from cartilage, the defect in keratan sulfate synthesis in macular corneal dystrophy may not be restricted to corneal cells. Subtle cartilaginous abnormalities should be sought in these patients. Deficient sulfotransferase might be responsible Nakazawa et al. As reviewed by Jonasson et al. The total amount of aKS in cornea is negligible when compared with the large quantity present in cartilaginous tissues; therefore it contributes little to the pool of aKS present in blood. This suggested that although MCD type I has clinical consequences for only the cornea and vision, it involves a systemic abnormality in the metabolism of all KS-containing proteoglycans in the body.

In the corneal stroma, lumican , a KS-containing proteoglycan, interacts with collagen fibrils and helps maintain their crucial size and ordered structure as well as corneal transparency.

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Lumican also affects corneal transparency by influencing corneal hydration. In MCD type I, the unsulfated keratan chains on lumican are less soluble than normal. With time, they precipitate, causing disorganization of the collagen network, thinning of the corneal stroma, and loss of transparency. By serum analyses, Jonasson et al.

The corneas from patients without detectable KS in the serum lacked immunohistochemical reactivity to the anti-KS antibody. All 53 unaffected sibs and parents carrying the recessive gene had normal serum KS levels. Thus, both types of macular corneal dystrophy occurred in Iceland. Members of affected sibships had only one of these types, not both.

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Nine patients with MCD type I and 4 persons with MCD type II belonged to a large pedigree in which individuals have been traced as far back as the beginning of the 16th century. The linking of patients with 2 types in an inbred pedigree suggested that both types may be manifestations of the same abnormal gene rather than independent entities. GlcNAc6ST activity in the extracts from MCD-affected corneas, which was measured by using oligo A as an acceptor, was much lower than in those corneas with keratoconus and in normal control corneas.

A significant maximum lod score of 7. In addition, a peak lod score of 2. These findings raised the possibility that these 2 phenotypically distinct forms of MCD are due to mutation at the same genetic locus. This appears to be the case for lattice corneal dystrophy type I and granular corneal dystrophy In MCD type I, they identified 7 mutations that were predicted to lead to inactivation of the enzyme see, e.

These mutations were thought to result in loss of corneal sulfotransferase function, which would account for the MCD phenotype in the families. The most frequent mutation c. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Relations entre les degenerescences heredo-familiales et les opacites congenitales de la cornee etude clinique et genealogique. Heterogeneity in macular corneal dystrophy. Identification of novel mutations in the carbohydrate sulfotransferase gene CHST6 causing macular corneal dystrophy. Corneal dystrophies associated with abnormalities of mucopolysaccharide metabolism.